correction on the stability of manganese tris β diketonate complexes as redox mediators in dsscs

Correction for 'On the stability of manganese tris(β-diketonate) complexes as redox mediators in DSSCs' by Stefano Carli et al., Phys. Chem. Chem. Phys., 2016, 18, 5949–5956

Statin-associated necrotizing autoimmune myopathy with concurrent myasthenia gravis

Statin treatment has been associated with necrotizing autoimmune myopathy and has been linked to myasthenia gravis. We present an unprecedented clinical challenge with both disorders occurring in a patient treated with statins few months earlier

Web-based telemonitoring and delivery of caregiver support for patients with Parkinson disease after deep brain stimulation: protocol

The increasing number of patients, the high costs of management, and the chronic progress of the disease that prevents patients from performing even simple daily activities make Parkinson disease (PD) a complex pathology with a high impact on society. In particular, patients implanted with deep brain stimulation (DBS) electrodes face a highly fragile stabilization period, requiring specific support at home. However, DBS patients are followed usually by untrained personnel (caregivers or family), without specific care pathways and supporting systems

Su alcuni punti nodali della questione ucraina (XIX-XXI secolo)

The chapter analyses the \u201cUkrainian Question\u201d, through examples of old and new analyses on Ukrainian identity, starting from an essay written by the British historian A.J. Toynbee in 1916, when the result of the WW1 and the future of Ukraine was still uncertain. Toynbee\u2019s assumptions are compared with interpretations given by various authors from 19th up to 21st centuries, showing that the crux of the matter is still debated by conteporary analysts. In conclusion, it is expressed the hope that the new presidency could take significant steps in order to consolidate the Ukrainian sovereignity in a peaceful perspective of democratic development

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T&gt;G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C&gt;A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.</p

Demographic and clinical determinants of neck pain in idiopathic cervical dystonia.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain

Dispareunia, vaginismo, iperattività del muscolo elevatore e tossina botulinica: il ruolo del neurologo

I disturbi sessuali caratterizzati da dolore, il vaginismo e la dispareunia, hanno in comune il dolore e la variabile contrattilità delmuscolo elevatore dell’ano (EA), che può essere primaria, presente fin dall’inizio dei rapporti, o secondaria al dolore comparso in seguito a eventi infiammatori vaginali, tra cui la vestibolite vulvare (VV). Tuttavia la letteratura sull’argomento è controversa. Obiettivo del lavoro: 1) esaminare l’attività del muscolo EA mediante elettromiografia (EMG), grazie al coinvolgimento di specialisti neurologi, in un campione di 67 donne: a) 16 (23.8%) con vaginismo primario e impossibilità alla penetrazione; b) 21 (31.3%) con dispareunia primaria complicata da VV; c) 30 (44.7%) con dispareunia secondaria, associata a VV. 2) valutare il rilassamento muscolare e la riduzione del dolore in risposta a terapia iniettiva sull’EA con tossina botulinica, 20 UI, ogni 2-3 mesi. Risultati: un miglioramento significativo della sintomatologia è stato riportato nel 46.6% nel gruppo di pazienti con vaginismo primario, nel 71.4% in quello con dispareunia primaria complicata da VV, 76.6% con dispareunia secondaria associata a vestibolite. 18 pazienti su 67 (26.8%) hanno sospeso il trattamento dopo mediamente 3 sedute per regressione della sintomatologia. Le percentuali di guarigione sono state: 20% tra le pazienti con vaginismo primario (dopo in media 3.6 sedute), 23.8% tra quelle con dispareunia primaria complicata da vestibolite (dopo in media 1.2 sedute), 46.6% in quelle con dispareunia secondaria a vestibolite (dopo in media 2.4 sedute). Conclusioni: una variabile iperattività del muscolo EA è un tratto comune tra vaginismo e dispareunia. Il trattamento con tossina botulinica può contribuire a ridurre significativamente il sintomo dolore, che può scomparire in una percentuale variabile tra il 20% (vaginismo primario) e il 46,6% (dispareunia secondaria). Questi dati suggeriscono che l’integrazione della tossina botulinica con la terapia sessuologica possa accelerare la guarigione. Questo dato va confermato in studi prospettici controllati. Il neurologo esperto di EMG e di trattamento con BT può contribuire alla diagnosi e al trattamento dei disturbi sessuali caratterizzati da dolore, nell’ambito di un approccio multidisciplinare

Genital and sexual pain in women

This chapter discusses the all too common problem of sex-related pain in women. Pain is a complex perceptive experience, involving biologic as well as psychologic and relational meanings. They become increasingly important with the chronicity of pain. Neurologists are quite aware of the painful aspect of many neurologic disorders, but lifelong and acquired genital and sexual pain is still neglected in a consistent percentage of women. One reason is the view - still held by many - that psychologic factors play the most important role in sex-related pain complaints. The consequences of diagnostic delay can be dramatic. Persisting tissue inflammation induces pain to change from acute and "nociceptive," which indicates a "friendly signal," alerting one to ongoing tissue damage, to chronic and "neuropathic," a disease per se. Whilst the primary disease is progressing and neuroinflammation becomes a prominent feature, affected women have to bear years of pain and distress, huge quantifiable and non-quantifiable costs, and a progressive deterioration of personal and relational health and happiness. The scenario is even more dramatic when pain complicates an already disabling disease. The main aspects considered in this chapter include neuroinflammation as a key feature of pain; genital and sexual pain as part of neurologic diseases; and genital and sexual pain syndrome (dyspareunia and vaginismus) as primary problems, and their pelvic comorbidities (bladder pain syndrome, endometriosis, irritable bowel syndrome, provoked vestibulodynia/vulvodynia). Finally, we discuss iatrogenic pain, i.e., genital and sexual pain caused by ill-conceived medical, surgical, pharmacologic or radiologic therapeutic interventions

Natural history of motor neuron disease in adult onset GM2-gangliosidosis: a case report with 25 years of follow-up

An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement. 25 years from the onset, his muscle weakness slightly worsened but he was fully independent in activities of daily living.GM2-gangliosidosis can manifest as a motor neuron disease with a slowly progressive course. The correct knowledge of the natural history can be really important to achieve the diagnosis, design new therapies and evaluate clinical trials

Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles

[no abstract available